Please use this identifier to cite or link to this item: http://bura.brunel.ac.uk/handle/2438/25862
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dc.contributor.authorSamra, K-
dc.contributor.authorMacdougall, A-
dc.contributor.authorPeakman, G-
dc.contributor.authorBouzigues, A-
dc.contributor.authorBocchetta, M-
dc.contributor.authorCash, DM-
dc.contributor.authorGreaves, CV-
dc.contributor.authorConvery, RS-
dc.contributor.authorvan Swieten, JC-
dc.contributor.authorJiskoot, LC-
dc.contributor.authorSeelaar, H-
dc.contributor.authorMoreno, F-
dc.contributor.authorSánchez-Valle, R-
dc.contributor.authorLaforce, R-
dc.contributor.authorGraff, C-
dc.contributor.authorMasellis, M-
dc.contributor.authorTartaglia, MC-
dc.contributor.authorRowe, JB-
dc.contributor.authorBorroni, B-
dc.contributor.authorFinger, E-
dc.contributor.authorSynofzik, M-
dc.contributor.authorGalimberti, D-
dc.contributor.authorVandenberghe, R-
dc.contributor.authorde Mendonca, A-
dc.contributor.authorButler, CR-
dc.contributor.authorGerhard, A-
dc.contributor.authorDucharme, S-
dc.contributor.authorLe Ber, I-
dc.contributor.authorTiraboschi, P-
dc.contributor.authorSantana, I-
dc.contributor.authorPasquier, F-
dc.contributor.authorLevin, J-
dc.contributor.authorOtto, M-
dc.contributor.authorSorbi, S-
dc.contributor.authorRohrer, JD-
dc.contributor.authorRussell, LL-
dc.date.accessioned2023-01-24T10:13:48Z-
dc.date.available2023-01-24T10:13:48Z-
dc.date.issued2023-01-10-
dc.identifierORCID iD: Kiran Samra https://orcid.org/0000-0002-3105-7099; Georgia Peakman https://orcid.org/0000-0002-3319-138X; Martina Bocchetta https://orcid.org/0000-0003-1814-5024; Rhian S Convery https://orcid.org/0000-0002-9477-1812; John C van Swieten https://orcid.org/0000-0001-6278-6844; Lize C Jiskoot https://orcid.org/0000-0002-1120-1858 Harro Seelaar https://orcid.org/0000-0003-1989-7527; James B Rowe https://orcid.org/0000-0001-7216-8679; Barbara Borroni https://orcid.org/0000-0001-9340-9814; Elizabeth Finger https://orcid.org/0000-0003-4461-7427; Matthis Synofzik https://orcid.org/0000-0002-2280-7273; Daniela Galimberti https://orcid.org/0000-0002-9284-5953; Alexander Gerhard https://orcid.org/0000-0002-8071-6062; Simon Ducharme https://orcid.org/0000-0002-7309-1113; Isabelle Le Ber https://orcid.org/0000-0002-2508-5181; Pietro Tiraboschi https://orcid.org/0000-0002-2171-1720; Sandro Sorbi https://orcid.org/0000-0002-0380-6670; Jonathan D Rohrer https://orcid.org/0000-0002-6155-8417.-
dc.identifier.citationSamra, K. et al. on behalf of the Genetic FTD Initiative (GENFI) (2023) 'Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales', Journal of Neurology, Neurosurgery & Psychiatry, 0 (ahead of print), pp. 357 - 368. doi: 10.1136/jnnp-2022-330152.en_US
dc.identifier.issn0022-3050-
dc.identifier.urihttps://bura.brunel.ac.uk/handle/2438/25862-
dc.descriptionData availability statement: Data are available on reasonable request. Some data are available on reasonable request after review by the GENFI Data Access Committee. Email is genfi@ucl.ac.uk.en_US
dc.descriptionSupplementary Data: This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content. Data supplement 1 available online at https://jnnp.bmj.com/highwire/filestream/218535/field_highwire_adjunct_files/0/jnnp-2022-330152supp001_data_supplement.pdf .-
dc.description.abstractCopyright © Author(s) (or their employer(s)) 2023. Background: Current clinical rating scales in frontotemporal dementia (FTD) often do not incorporate neuropsychiatric features and may therefore inadequately measure disease stage. Methods: 832 participants from the Genetic FTD Initiative (GENFI) were recruited: 522 mutation carriers and 310 mutation-negative controls. The standardised GENFI clinical questionnaire assessed the frequency and severity of 14 neuropsychiatric symptoms: visual, auditory, and tactile hallucinations, delusions, depression, anxiety, irritability/lability, agitation/aggression, euphoria/elation, aberrant motor behaviour, hypersexuality, hyperreligiosity, impaired sleep, and altered sense of humour. A principal component analysis (PCA) was performed to identify key groupings of neuropsychiatric and behavioural items in order to create a new neuropsychiatric module that could be used as an addition to the Clinical Dementia Rating (CDR) plus National Alzheimer’s Coordinating Center Behaviour and Language Domains (NACC FTLD) rating scale. Results: Overall, 46.4% of mutation carriers had neuropsychiatric symptoms (51.6% C9orf72, 40.8% GRN, 46.6% MAPT) compared with 24.5% of controls. Anxiety and depression were the most common in all genetic groups but fluctuated longitudinally and loaded separately in the PCA. Hallucinations and delusions loaded together, with the remaining neuropsychiatric symptoms loading with the core behavioural features of FTD. These results suggest using a single ‘psychosis’ neuropsychiatric module consisting of hallucinations and delusions. Adding this to the CDR plus NACC FTLD, called the CDR plus NACC FTLD-N, leads to a number of participants being scored more severely, including those who were previously considered asymptomatic now being scored as prodromal. Conclusions: Neuropsychiatric symptoms occur in mutation carriers at all disease stages across all three genetic groups. However, only psychosis features provided additional staging benefit to the CDR plus NACC FTLD. Inclusion of these features brings us closer to optimising the rating scale for use in trials.en_US
dc.description.sponsorshipThe Dementia Research Centre is supported by Alzheimer's Research UK, Alzheimer's Society, Brain Research UK, and The Wolfson Foundation. This work was supported by the National Institute for Health Research (NIHR) Queen Square Dementia Biomedical Research Unit and the University College London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. Several authors of this publication (JCVS, MS, RV, AdM, MO, RV, JDR) are members of the European Reference Network for Rare Neurological Diseases (ERN-RND) - Project ID No 739510. Other funders include: Alzheimer's Research UK (ARUK-CRF2017B-2), Alzheimer's Society (AS-JF-19a-004-517), Alzheimer's Society (AS-PG-16-007), Association for Frontotemporal Dementias Research (2009), Bluefield Project, JPND GENFI-PROX 2019-02248, Government of Canada, Canadian Institutes of Health Research (327387), Deutsche Forschungsgemeinschaft (EXC 2145 SyNergy – ID 390857198), DFG, German Research Foundation (01ED2008B), European Reference Network for Rare Neurological Diseases (ERN-RND) (739510), GENFI (MR/M023664/1), Germany’s Excellence Strategy (390857198, EXC 2145), Government of Canada, Canadian Institutes of Health Research operating grant (MOP- 371851 and PJT-175242), Instituto de Salud Carlos III (PI20/00448), Fundació Marató TV3 (20143810), Italian Ministry of Health (CoEN015 and Ricerca Corrente, PreFrontALS JPND - 733051042), JPND Prefrontals (2015–02926, 2018–02754), Karolinska Institutet, Doctoral Funding, London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre, (LWENC), Mady Browaeys Fund for Research into Frontotemporal Dementia, Miriam Marks Brain Research UK Senior Fellowship, MRC (MR/M008525/1), MRC UK GENFI grant (MR/M023664/1), National Brain Appeal (RCN 290173), National Institute for Health Research (NIHR) (BRC-1215-20014), National Institute for Health Research Queen Square Dementia, Biomedical Research Unit, NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH), The Wolfson Foundation, UK Dementia Research Institute (SM-UCLO-MA-0519), UK Medical Research Council (SUAG/051 G101400), University College London Hospitals Biomedical Research Centre, Wellcome Trust (103838), National Institute for Health Research Cambridge Biomedical Research Centre.-
dc.format.mediumPrint-Electronic-
dc.languageEnglish-
dc.language.isoenen_US
dc.publisherBMJ Publishing Groupen_US
dc.rightsCopyright information: © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.-
dc.rightsCopyright information © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.-
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/-
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/-
dc.titleNeuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scalesen_US
dc.typeArticleen_US
dc.identifier.doihttps://doi.org/10.1136/jnnp-2022-330152-
dc.relation.isPartOfJournal of Neurology, Neurosurgery & Psychiatry-
pubs.issue5-
pubs.publication-statusPublished online-
pubs.volume94-
dc.identifier.eissn1468-330X-
dc.rights.holderAuthor(s) (or their employer(s))-
dc.rights.holderAuthor(s)-
Appears in Collections:Dept of Life Sciences Research Papers

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